CFAP144[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 3143325	NM_001101376.3(CFAP144):c.166C>T (p.His56Tyr)	CFAP144 (H56Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143326	NM_001101376.3(CFAP144):c.170A>G (p.Asp57Gly)	CFAP144 (D57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143327	NM_001101376.3(CFAP144):c.190G>A (p.Asp64Asn)	CFAP144 (D64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143328	NM_001101376.3(CFAP144):c.201T>G (p.Phe67Leu)	CFAP144 (F67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710363	NM_001101376.3(CFAP144):c.298A>G (p.Ile100Val)	CFAP144 (I100V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2594919	NM_001101376.3(CFAP144):c.310C>T (p.Arg104Cys)	CFAP144 (R104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783936	NM_001101376.3(CFAP144):c.358_359del (p.Leu120fs)	CFAP144 (L120fs)	Microsatellite (frameshift variant)	not provided	GBenign
Select item 1334644	NM_001101376.3(CFAP144):c.377G>A (p.Trp126Ter)	CFAP144 (W126*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2459678	NM_001101376.3(CFAP144):c.379G>A (p.Gly127Ser)	CFAP144 (G127S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	GPathogenic
Select item 2685798	GRCh37/hg19 1p34.2(chr1:43431433-43787962)x3	C1orf210, CFAP144 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2425602	NC_000001.10:g.(?_43392712)_(43675755_?)dup	CFAP144, CFAP57 +2 more	Duplication	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 1070387	NC_000001.10:g.(?_43392692)_(43870241_?)del	CDC20, CFAP144 +10 more	Deletion	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic

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Items: 22